Overview
EVEN-plus syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bifid tip of nose
Always present (100%)HP:0000456
coronal cleft of vertebrae
Always present (100%)HP:0003417
Microtia
Always present (100%)HP:0008551
Retruded nasal dorsum
Always present (100%)HP:0000457
Unibrow
Always present (100%)HP:0000664
Anal atresia
Frequent (30-79%)HP:0002023
Atria septal defect
Frequent (30-79%)HP:0001631
Congenital scars
Frequent (30-79%)HP:0001057
Dysplasia of corpus callosum
Frequent (30-79%)HP:0006989
PFO
Frequent (30-79%)HP:0001655
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Short and broad skull
Frequent (30-79%)HP:0000248
VUR
Frequent (30-79%)HP:0000076
Abnormal development of end part of bone
HP:0002656
Absence of corpus callosum
HP:0001274
Decreased amniotic fluid index
HP:0001562
Dysplastic femoral head
HP:0010575
Flat midface
HP:0011800
High arched palate
HP:0000218
Infantile eczema
HP:0001047
Lens opacities
Excluded (<1%)HP:0000518
Missing between one and six teeth
HP:0000668
Nasal hypoplasia
HP:0003196
Repeated bladder infections
HP:0000010
Short neck
HP:0000470
Short stature, severe
HP:0003510
Small kidneys
HP:0000089
Thick, flared eyebrows
HP:0002553
Thin, sparse hair
HP:0008070
Vertebral clefts
HP:0008428
Related Conditions
Congenital anomaly of nose(parent)
Congenital malformation of ear(parent)
Auditory system hereditary disorder(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Chronic ear disorder(parent)
Epiphyseal dysplasia(parent)
Spinal dysplasia(parent)
Quick Facts
- SNOMED CT
- 1260203008
- UMLS CUI
- C4225180
- Fully Specified Name
- Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.